Advances in genotyping and treatment of progressive familial intrahepatic cholestasis
- VernacularTitle:进行性家族性肝内胆汁淤积症的基因分型及治疗进展
- Author:
Yijing LIU
1
;
Fang ZHOU
1
Author Information
- Publication Type:Review
- Keywords: Cholestasis， Intrahepatic; Genotype; Therapeutics
- From: Journal of Clinical Hepatology 2025;41(4):784-792
- CountryChina
- Language:Chinese
- Abstract: Progressive family intrahepatic cholestasis （PFIC） is a rare group of autosomal recessive disorders. In recent years， with the development of molecular biology， new pathogenic genes have been constantly identified， and PFIC is currently categorized into 12 genotypes based on the OMIM database. The main manifestations of PFIC include jaundice， pruritus， growth retardation， and malabsorption of fat-soluble vitamins， and some variants can rapidly progress to liver fibrosis， liver cirrhosis， liver failure， and even liver cancer. Different types of PFIC have different clinical manifestations and treatment strategies， and genetic testing can help to achieve early identification and diagnosis. This article reviews the latest advances in the genotyping， clinical features， and treatment of PFIC.
